Although rare diseases may be individually rare, they are collectively common, with 1 in 17 people being affected by a rare disease at some point in their lives.
This national NHS Genomic of Excellence will focus on how to help patients get a diagnosis faster, as well as seek to reduce genomic health inequalities; develop new testing approaches, especially for those patients with a suspected rare disease that remain undiagnosed using current genomic testing in the NHS GMS; increase the efficiency of analysis; and increase capacity for rare condition clinical trials.
The goal of the NHS Rare and Inherited Disease (RID) Genomic Network of Excellence (NoE) is to advance rare disease diagnosis and patient care. The RID NoE is led by the South West, North West and the North East and Yorkshire Genome Medicine Service Alliances and benefits from partnerships with an extensive group of leading NHS Trusts, academic institutions, Genomics England, NIHR infrastructure, international collaborators, the third sector and industry. This network consists of four work packages:
1. Developing new pathways for improving clinical care of patients with rare conditions
2.Development of new diagnostic testing approaches for rare conditions
3. Increasing efficiency of analysis and reanalysis using data driven approaches
4. Increasing capacity and expertise for rare condition clinical trials
More about Genomic Networks of Excellence
In October 2022, NHS England published Accelerating Genomic Medicine in the NHS, the first NHS genomics strategy. The strategy included a plan to establish ‘NHS Genomic Networks of Excellence’ as part of its commitment to provide a world-leading NHS Genomic Medicine Service (GMS) which provides cutting-edge benefits for patients in the NHS.
NHS England is now funding eight innovative networks to develop the evidence and model of adoption for cutting edge genomic advances and technology applications that will be transformative for patients. The NHS Genomic Networks of Excellence are designed to be partnerships between the NHS, academia, the third sector and industry to leverage expertise and resources from the broader genomics ecosystem, and to ensure there is a route towards rapid informing commissioning decisions.
Following a rigorous process of expressions of interest and business case submissions, reviewed by NHS England Genomics Unit, NHS England national clinical directors, national specialty advisors, the Office for Life Sciences, Genomics England and other key stakeholders, eight networks of excellence have been established in the following areas:
- Prenatal genomic medicine
- Circulating tumour biomarker testing
- Haemato-oncology
- Rare and inherited disease
- Severe presentation of infectious disease
- Improving the identification and outcomes for individuals with inherited and acquired cardiovascular disease
- Pharmacogenomic and medicines optimisation
- Genomics artificial intelligence (AI)